Paolo Peterlongo
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Explore the profile of Paolo Peterlongo including associated specialties, affiliations and a list of published articles.
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199
Citations
10968
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Recent Articles
1.
Yiangou K, Mavaddat N, Dennis J, Zanti M, Wang Q, Bolla M, et al.
Breast Cancer Res
. 2024 Dec;
26(1):189.
PMID: 39734228
Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk...
2.
Davidson A, Michailidou K, Parsons M, Fortuno C, Bolla M, Wang Q, et al.
Am J Hum Genet
. 2024 Aug;
111(9):2059-2069.
PMID: 39096911
Co-observation of a gene variant with a pathogenic variant in another gene that explains the disease presentation has been designated as evidence against pathogenicity for commonly used variant classification guidelines....
3.
Zanti M, OMahony D, Parsons M, Li H, Dennis J, Aittomakkiki K, et al.
Hum Mutat
. 2024 May;
2023.
PMID: 38725546
A large number of variants identified through clinical genetic testing in disease susceptibility genes, are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and...
4.
Barnes D, Tyrer J, Dennis J, Leslie G, Bolla M, Lush M, et al.
medRxiv
. 2024 Mar;
PMID: 38496424
Background: Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of (CIMBA),...
5.
Yiangou K, Mavaddat N, Dennis J, Zanti M, Wang Q, Bolla M, et al.
medRxiv
. 2024 Feb;
PMID: 38410445
The 313-variant polygenic risk score (PRS) provides a promising tool for breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has...
6.
Levi H, Carmi S, Rosset S, Yerushalmi R, Zick A, Yablonski-Peretz T, et al.
J Med Genet
. 2023 Jul;
60(12):1186-1197.
PMID: 37451831
Background: Polygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in individuals of...
7.
Figlioli G, Billaud A, Wang Q, Bolla M, Dennis J, Lush M, et al.
Cancers (Basel)
. 2023 Jul;
15(13).
PMID: 37444426
germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described the spectrum of PTVs in 114 European breast cancer cases. In the present, larger cohort,...
8.
Morra A, Schreurs M, Andrulis I, Anton-Culver H, Augustinsson A, Beckmann M, et al.
Cancer Med
. 2023 Jul;
12(15):16142-16162.
PMID: 37401034
Background: Breast cancer (BC) patients with a germline CHEK2 c.1100delC variant have an increased risk of contralateral BC (CBC) and worse BC-specific survival (BCSS) compared to non-carriers. Aim: To assessed...
9.
Bucalo A, Conti G, Valentini V, Capalbo C, Bruselles A, Tartaglia M, et al.
Eur J Cancer
. 2023 Jun;
188:183-191.
PMID: 37262986
Background: Germline pathogenic variants (PVs) in BRCA1/2 genes are associated with breast cancer (BC) risk in both women and men. Multigene panel testing is being increasingly used for BC risk...
10.
Muranen T, Morra A, Khan S, Barnes D, Bolla M, Dennis J, et al.
NPJ Breast Cancer
. 2023 May;
9(1):37.
PMID: 37173335
We assessed the PREDICT v 2.2 for prognosis of breast cancer patients with pathogenic germline BRCA1 and BRCA2 variants, using follow-up data from 5453 BRCA1/2 carriers from the Consortium of...